A63G (p.Ala63Gly) variant of ACAN (Aggrecan core protein)
A63G (p.Ala63Gly) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A63G (p.Ala63Gly) variant details
- p.Ala63Gly
- gnomAD rs1245147885
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 0.32
- MetaLR 0.03
- MetaSVM -1.13
- CADD 24.10
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available